SLC14A1 Chromosome 18
Solute carrier family 14 member 1 (Kidd blood group)
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What This Gene Does
The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009]
Gene Info
Gene Group
"Blood group antigens|Solute carrier family 14"
Locus Type
gene with protein product
Location
18q12.3
Ensembl
ENSG00000141469
Associated Conditions (7)
SLC14A1-related disorder
Jk-null variant
Malignant lymphoma
large B-cell
diffuse
finnish type
altered red cell phenotype
Key Variants
RS760401643
Likely pathogenic
SLC14A1-related disorder, SLC14A1-related disorder
Health Risk
RS78937798
Likely pathogenic
Jk-null variant, SLC14A1-related disorder, Malignant lymphoma
Health Risk
RS77744921
Pathogenic
Jk-null variant, Jk-null variant
Health Risk
RS78242949
Pathogenic
Jk-null variant, finnish type, Jk-null variant
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS760401643 | Health Risk | Likely pathogenic | SLC14A1-related disorder, SLC14A1-related disorder |
| RS78937798 | Health Risk | Likely pathogenic | Jk-null variant, SLC14A1-related disorder, Malignant lymphoma |
| RS77744921 | Health Risk | Pathogenic | Jk-null variant, Jk-null variant |
| RS78242949 | Health Risk | Pathogenic | Jk-null variant, finnish type, Jk-null variant |
| RS777313922 | Trait | Affects | altered red cell phenotype, altered red cell phenotype |